Stories about: best practices

When to tell: The numbers problem with genomic studies and the “incidental finding”

Do the cells in this blood harbor a potentially harmful gene? If the answer is yes, but the person it belongs to donated it for unrelated research, it's not yet clear when - or how - to tell them. (JHeuser/Wikimedia Commons)

Snippets of tissue, vials of blood and tubes of DNA from hundreds of thousands of people sit in freezers and liquid nitrogen tanks right now in laboratories across the globe. They come from people like you and me, donated in the hope that our genes researchers will be able to glean insights for the next breakthroughs for diseases common and rare.

Whenever we sign a consent form and roll up our sleeve, we don’t just join the community of research. We also become part of a debate that has been raging among researchers, clinicians and ethicists for years: What if our DNA sequence turns up bad news unrelated to the research we signed up for?

“There is an emerging consensus among genomics researchers that we have an ethical responsibility to tell participants if we find, in the course of a research study, genetic variations that could impact their healthcare decisions,” says Kenneth Mandl, who directs the Intelligent Health Laboratory (IHL)  in the Children’s Hospital Informatics Program (CHIP).

This responsibility can quickly turn into a numbers problem – a massive administrative burden. Consider that there are more than 104,000 human genetic variations now cited in the medical literature with links to human disease.

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Seeking CLARITY: Genomics sleuths set out for the prize

There are no best practices for turning patient's genome sequence into information that a doctor can easily understand…and act on. Children's Hospital Boston's CLARITY Challenge calls on the genomics community to come up with those practices, and possibly help three families in the process. (michab37/Flickr)

Personalized medicine, harnessing genomics to improve patient care, is a great idea on paper. But investigators have long struggled to find a smooth route from the bench – where patients’ DNA samples are sequenced – to the bedside, where a doctor can use a genomics report to diagnose illness, prescribe treatments and offer means of prevention.

Looking for innovations, Children’s Hospital Boston decided to use the incentive of competition, launching a contest called the CLARITY Challenge. The winner will be the company or group that can best translate the science of genomics into tools and methods that integrate into and inform everyday care.

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